NM_001130144.3(LTBP3):c.2510T>C (p.Ile837Thr) AND Inborn genetic diseases
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Jul 8, 2021
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002441223.2
Allele description [Variation Report for NM_001130144.3(LTBP3):c.2510T>C (p.Ile837Thr)]
NM_001130144.3(LTBP3):c.2510T>C (p.Ile837Thr)
Condition(s)
- Name:
- Inborn genetic diseases
- Identifiers:
- MeSH: D030342; MedGen: C0950123
Assertion and evidence details
Last Updated: Oct 13, 2024